Linked Data
dbSNP Id:
rs587777499
gnomAD v2:
5-54529089-T-TGGGCCGGGCC
gnomAD v3:
5-55233261-T-TGGGCCGGGCC
gnomAD v4:
5-55233261-T-TGGGCCGGGCC
MyVariant Identifiers:
chr5:g.54529089_54529090insGGGCCGGGCC (hg19)
chr5:g.55233261_55233262insGGGCCGGGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233266_55233275dup , CM000667.2:g.55233266_55233275dup | GRCh38 |
| NC_000005.9:g.54529094_54529103dup , CM000667.1:g.54529094_54529103dup | GRCh37 |
| NC_000005.8:g.54564851_54564860dup | NCBI36 |
| NG_034201.1:g.5447_5456dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.253_262dup MANE Select | ENSP00000282572.4:p.Gln88ArgfsTer? | |
| ENST00000282572.4:c.253_262dup | ENSP00000282572.4:p.Gln88ArgfsTer? | |
| ENST00000501463.2:c.253_262dup | ENSP00000422485.1:p.Gln88ArgfsTer? | |
| NM_021147.4:c.253_262dup | NP_066970.3:p.Gln88ArgfsTer? | |
| NR_125346.1:n.447_456dup | ||
| NR_125347.1:n.447_456dup | ||
| NM_021147.5:c.253_262dup MANE Select | NP_066970.3:p.Gln88ArgfsTer? | |
| NR_125346.2:n.338_347dup | ||
| NR_125347.2:n.338_347dup |